NPRL2 Chromosome 3
NPR2 like, GATOR1 complex subunit
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What This Gene Does
Enables GTPase activator activity. Involved in cellular response to amino acid starvation; negative regulation of TORC1 signaling; and negative regulation of kinase activity. Part of GATOR1 complex. Is active in lysosomal membrane. Implicated in familial focal epilepsy with variable foci 2. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
GATOR1 subcomplex
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000114388
Associated Conditions (8)
Inborn genetic diseases
Epilepsy
familial focal
with variable foci 2
Seizure
Neonatal respiratory distress
Familial focal epilepsy with variable foci
NPRL2-related disorder
Key Variants
RS139117542
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147938650
Conflicting classifications of pathogenicity
Epilepsy, familial focal, with variable foci 2
Health Risk
RS2470938044
Conflicting classifications of pathogenicity
Epilepsy, familial focal, with variable foci 2
Health Risk
RS376159787
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS767088341
Conflicting classifications of pathogenicity
Epilepsy, familial focal, with variable foci 2
Health Risk
RS776473269
Conflicting classifications of pathogenicity
Seizure, Seizure
Health Risk
RS886037963
Conflicting classifications of pathogenicity
Epilepsy, familial focal, with variable foci 2
Health Risk
RS1559857717
Likely pathogenic
Epilepsy, familial focal, with variable foci 2
Health Risk
RS1575562076
Likely pathogenic
Epilepsy, familial focal, with variable foci 2
Health Risk
RS1703652698
Likely pathogenic
Epilepsy, familial focal, with variable foci 2
Health Risk
RS1703727528
Likely pathogenic
Health Risk
RS2109364484
Likely pathogenic
Epilepsy, familial focal, with variable foci 2
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139117542 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147938650 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial focal, with variable foci 2 |
| RS2470938044 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial focal, with variable foci 2 |
| RS376159787 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767088341 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial focal, with variable foci 2 |
| RS776473269 | Health Risk | Conflicting classifications of pathogenicity | Seizure, Seizure |
| RS886037963 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial focal, with variable foci 2 |
| RS1559857717 | Health Risk | Likely pathogenic | Epilepsy, familial focal, with variable foci 2 |
| RS1575562076 | Health Risk | Likely pathogenic | Epilepsy, familial focal, with variable foci 2 |
| RS1703652698 | Health Risk | Likely pathogenic | Epilepsy, familial focal, with variable foci 2 |
| RS1703727528 | Health Risk | Likely pathogenic | — |
| RS2109364484 | Health Risk | Likely pathogenic | Epilepsy, familial focal, with variable foci 2 |
| RS2109365845 | Health Risk | Likely pathogenic | Epilepsy, familial focal, with variable foci 2 |
| RS2109368360 | Health Risk | Likely pathogenic | — |
| RS2109368530 | Health Risk | Likely pathogenic | Neonatal respiratory distress, Neonatal respiratory distress |
| RS2470932402 | Health Risk | Likely pathogenic | Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2470936665 | Health Risk | Likely pathogenic | NPRL2-related disorder, NPRL2-related disorder |
| RS1703612751 | Health Risk | Pathogenic | — |
| RS2109370013 | Health Risk | Pathogenic | Epilepsy, familial focal, with variable foci 2 |
| RS886037965 | Health Risk | Pathogenic | Epilepsy, familial focal, with variable foci 2 |
| RS886037966 | Health Risk | Pathogenic | Epilepsy, familial focal, with variable foci 2 |
| RS1703621639 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, familial focal, with variable foci 2 |
| RS886037964 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, familial focal, with variable foci 2 |